Top TEN MUTATIONS ON OUR SITE

Imogene

Administrator
From our profiles these are the top 10 mutations on CF.com with the number of people who have them:
1582
F508del
72
G551D
69
R117H
55
G542X
29
N1303K
28
W1282X
26
1717-1G->A
21
3849+10kbC->T
20
I507del
20
5T
18
621+1G->T
13
R553X
13
D1152H
 
W

welshwitch

Guest
Also really interesting to see I'm in a mega minority as far as genes (N1303K and 621+1G->T, WOW!)
 
S

stephen

Guest
Jeanne,

Your data really got my interest so I went to the CFTR2 Database which has a little over total 39,600 "patient contributors".

Here are the top ten mutations, out of a total of about 150, as listed in the CFTR2.org website database. As you would expect there is a high degree of correlation with the data you collected so far.

NOTE: It’s really interesting how fast the occurrence drops after F508del, which is by far the most common.



Occurrence Rank

Mutation

Occurrences

1
F508del

29018

2
G542X

1651

3
G551D

1249

4
N1303K

1113

5
W1282X

895

6
R117H

726

7
R553X

593

8
1717-1G->A.

592

9
621+1G->T

555

10
2789+5G->A

492


21
D1152H

184


About 150
Y569D

6
 

Imogene

Administrator
Thanks for the heads up Stephen.
Our data is from our database of close to 3,000 patients who offered it in their profile. Not sure where 39,000 patients came from for the CFTR site. Is it global?
 

Imogene

Administrator
Thanks Aleksandra and all...we have some exciting things coming up! I am hoping to share with you soon.
Jeanne
 
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